Aliases & Classifications for Stac3 Disorder

MalaCards integrated aliases for Stac3 Disorder:

Name: Stac3 Disorder 24
Native American Myopathy 24

Summaries for Stac3 Disorder

MalaCards based summary : Stac3 Disorder, also known as native american myopathy, is related to cleft palate, isolated and myopathy, congenital. An important gene associated with Stac3 Disorder is STAC3 (SH3 And Cysteine Rich Domain 3). Affiliated tissues include skeletal muscle.

GeneReviews: NBK542808

Related Diseases for Stac3 Disorder

Diseases related to Stac3 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.1
2 myopathy, congenital 10.1
3 myopathy, congenital, bailey-bloch 10.1
4 scoliosis 10.1
5 ptosis 10.1
6 myopathy 10.1
7 malignant hyperthermia 10.1
8 malignant hyperthermia susceptibility 10.1
9 alkuraya-kucinskas syndrome 9.9
10 autosomal recessive disease 9.9
11 talipes equinovarus 9.9
12 congenital amyoplasia 9.9

Graphical network of the top 20 diseases related to Stac3 Disorder:



Diseases related to Stac3 Disorder

Symptoms & Phenotypes for Stac3 Disorder

Drugs & Therapeutics for Stac3 Disorder

Search Clinical Trials , NIH Clinical Center for Stac3 Disorder

Genetic Tests for Stac3 Disorder

Anatomical Context for Stac3 Disorder

MalaCards organs/tissues related to Stac3 Disorder:

41
Skeletal Muscle

Publications for Stac3 Disorder

Articles related to Stac3 Disorder:

(show all 24)
# Title Authors PMID Year
1
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. 38 4
28411587 2017
2
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. 38 4
28777491 2017
3
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 38 4
23736855 2013
4
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 38 4
18843099 2008
5
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. 38 4
18553514 2008
6
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. 4
30168660 2018
7
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. 4
30065953 2018
8
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. 4
29560417 2018
9
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. 4
28681861 2017
10
De novo mutations in PLXND1 and REV3L cause Möbius syndrome. 4
26068067 2015
11
Consensus statement on standard of care for congenital myopathies. 4
22431881 2012
12
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 4
21514828 2011
13
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 4
18765655 2008
14
Neurological disorders. The mystery of the missing smile. 4
17495152 2007
15
Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome? 4
3245876 1988
16
Malignant hyperthermia in a three-month-old American Indian infant. 4
3631569 1987
17
The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. 4
7131178 1982
18
Anesthetic-induced malignant hyperpyrexia in children. 4
4149045 1973
19
STAC3 Disorder 38
31219695 2019
20
Malignant Hyperthermia. 38
31040503 2019
21
Structural insights into binding of STAC proteins to voltage-gated calcium channels. 38
29078335 2017
22
STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. 38
28112192 2017
23
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. 38
28003463 2017
24
Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation. 38
27621462 2016

Variations for Stac3 Disorder

Expression for Stac3 Disorder

Search GEO for disease gene expression data for Stac3 Disorder.

Pathways for Stac3 Disorder

GO Terms for Stac3 Disorder

Sources for Stac3 Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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